ORPHA:522564
Syndromic genetic keratoconus
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndromic genetic keratoconus | |
| fr | Syndromes génétiques comprenant un kératocône | |
| de | Syndromaler genetisch bedingter Keratokonus | |
| es | Queratocono genético sindrómico | |
| it | Cheratocono congenito sindromico | |
| nl | Syndromale genetische keratoconus | |
| pt | Queratoconus genético raro | |
| pl | Zespół stożka rogówki uwarunkowany genetycznie | |
| cs | Syndromický genetický keratokonus | |
| uk | Синдромний генетично обумовлений кератоконус | |
| zh | 综合征性遗传性圆锥角膜 | |
| tr | Sendromik genetik keratokonus |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681411 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:522558Rare genetic disorder with corneal involvement as a major feature
rare genetic diseases
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/522564
- This record as JSON: /data/d/522564.json